FlyBase Allele Report: Dmel\Torsin[KO78]

General Information

Symbol

Dmel\Torsin^KO78

Species

D. melanogaster

Name

FlyBase ID

FBal0264562

Feature type

allele

Associated gene

Dmel\Torsin

Associated Insertion(s)

TI{TI}Torsin^KO78

Carried in Construct

Also Known As

dtorsin^KO78

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

ends-out gene targeting

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Wakabayashi-Ito et al., 2011)

Mutagen

ends-out gene targeting

(Wakabayashi-Ito et al., 2011)

Progenitor genotype

Associated Insertion(s)

TI{TI}Torsin^KO78

Cytology

Description

Torsin coding sequence from the translation start codon to 16 bases upstream of the translation termination codon has been deleted and replaced by a w^+mW.hs marker.

(Wakabayashi-Ito et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

X:4,648,703..4,649,765 [-]

Comment:

Deletion by targeted homologous recombination of sequences from the initiator ATG to 16 bases upstream of the translation termination codon.

(Wakabayashi-Ito et al., 2011)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of dystonia

CEA

(Jokhi et al., 2013)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Hemizygous Torsin^KO78 flies survive through larval stages and most die during pupation, and they spend significantly more time in the third instar larval stage than controls. Hemizygous Torsin^KO78 third instar larvae display a significantly smaller fat body, and reduced body weight, but no overall different in body size; fat body cells are smaller due to a failure to undergo expansion during larval stages; lipid droplet size is increased in early L3 fat cells and lipid droplets are often fused in late L3 fat cells, but there is no obvious change in lipid droplet density; tubular ER structures appear to be missing; as compared to controls.

(Grillet et al., 2016)

Mutant muscle and epithelial cells have large ribonucleoprotein (megaRNP) granules tethered to the inner nuclear membrane.

The number of normal synaptic boutons at the neuromuscular junction is significantly reduced in mutant third instar larvae compared to wild type, while the number of undifferentiated 'ghost' boutons is significantly increased.

(Jokhi et al., 2013)

Only a few Torsin^KO78/Y adult males survive. These are sterile, have a pale body colour, have short and thin bristles, and move slowly.

Dopamine levels are significantly reduced in adult heads of Torsin^KO13/+ adult females compared to wild type. The levels of the dopamine metabolite DOPAC are also decreased in Torsin^KO13/+ adult female heads, though not proportional to the reduction in dopamine levels.

Heterozygotes show no significant difference in tyrosine hydroxylase activity, but do show a significant reduction in GTP cyclohydrolase activity, compared to wild type controls.

(Wakabayashi-Ito et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Torsin^KO78 has decreased cell size | larval stage phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased cell size | larval stage phenotype, suppressible by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased cell size | larval stage phenotype, suppressible by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, suppressible by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, suppressible by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased cell size | larval stage phenotype, suppressible by TORIP::Torsin^{TMD-dLap1.UAS.mEGFP(L221K)}/Scer\GAL4^Cg.PA

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased cell growth rate | larval stage phenotype, suppressible | partially by Scer\GAL4^arm.PS/Lpin^GD14004

(Grillet et al., 2016)

Torsin^KO78 has partially lethal - majority die phenotype, suppressible | partially by Scer\GAL4^arm.PS/Lpin^GD14004

(Grillet et al., 2016)

Torsin^KO78 has partially lethal - majority die phenotype, suppressible | partially by Lpin^KG00562/Lpin^KG00562

(Grillet et al., 2016)

NOT suppressed by

Statement

Reference

Torsin^KO78 has decreased cell size | larval stage phenotype, non-suppressible by Scer\GAL4^Cg.PA/Torsin::Mmus\Sec61b^{TMD-mSec61b.UAS.mEGFP(L221K)}

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by Gpat4^GD3566/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by Agpat2^GD3463/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by wun2^GD1900/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by wun^GD1640/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by Dgk^GD6575/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by Fitm^HMC04738/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has decreased size | larval stage phenotype, non-suppressible by Seipin^HMS01643/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has abnormal size | third instar larval stage phenotype, non-suppressible by Scer\GAL4^arm.PS/Lpin^GD14004

(Grillet et al., 2016)

Torsin^KO78 has partially lethal - majority die phenotype, non-suppressible by Scer\GAL4^arm.PS/Lpin^UAS.cUa

(Grillet et al., 2016)

Torsin^KO78 has partially lethal - majority die phenotype, non-suppressible by Lpin[+]/Lpin^KG00562

(Grillet et al., 2016)

Other

Statement

Reference

TORIP^Δ11, Torsin^KO78 has lethal phenotype

(Jacquemyn et al., 2021)

TORIP^Δ11, Torsin^KO78 has decreased cell size | larval stage phenotype

(Jacquemyn et al., 2021)

Phenotype Manifest In

Suppressed by

Statement

Reference

Torsin^KO78 has larval fat cell phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has larval fat cell phenotype, suppressible | partially by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has larval fat cell phenotype, suppressible | partially by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear pore | larval stage | decreased number phenotype, suppressible | partially by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear pore | larval stage | decreased number phenotype, suppressible | partially by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear pore | larval stage | decreased number phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear envelope | larval stage phenotype, suppressible | partially by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear envelope | larval stage phenotype, suppressible | partially by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear envelope | larval stage phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has lipid droplet | increased number | larval stage phenotype, suppressible by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has lipid droplet | increased number | larval stage phenotype, suppressible by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, suppressible by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, suppressible | partially by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has lipid droplet | increased number | larval stage phenotype, suppressible by Cnep1r2^GD16908/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear membrane | larval stage phenotype, suppressible | partially by Ctdnep1^GD4859/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear membrane | larval stage phenotype, suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has larval fat cell phenotype, suppressible by Cnep1r2^GD16908/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has lipid droplet | increased number | larval stage phenotype, suppressible by TORIP::Torsin^{TMD-dLap1.UAS.mEGFP(L221K)}/Scer\GAL4^Cg.PA

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^arm.PS/Lpin^GD14004

(Grillet et al., 2016)

NOT suppressed by

Statement

Reference

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by Gpat4^GD3566/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by Agpat2^GD3463/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by Fitm^HMC04738/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by wun^GD1640/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by Dgk^GD6575/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by wun2^GD1900/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has embryonic/larval fat body | larval stage phenotype, non-suppressible by Seipin^HMS01643/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has lipid droplet | increased number | larval stage phenotype, non-suppressible by Cnep1r1^KK114161/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has nuclear membrane | larval stage phenotype, non-suppressible by Lpin^GD14004/Scer\GAL4^r4

(Jacquemyn et al., 2021)

Torsin^KO78 has lipid droplet | increased number | larval stage phenotype, non-suppressible by Scer\GAL4^Cg.PA/Torsin::Mmus\Sec61b^{TMD-mSec61b.UAS.mEGFP(L221K)}

(Jacquemyn et al., 2021)

Other

Statement

Reference

TORIP^Δ11, Torsin^KO78 has larval fat cell phenotype

(Jacquemyn et al., 2021)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Lpin^GD14004 under the control of Scer\GAL4^arm.PS fails to rescue the reduced fat body size, but partially rescues the growth defect of fat cells, the reduced body weight, and lethality of hemizygous Torsin^KO78 larvae.

Expression of Lpin^Scer\UAS.cUa under the control of Scer\GAL4^arm.PS fails to rescue the lethality of hemizygous Torsin^KO78 larvae.

Lpin^KG00562/Lpin^KG00562, but not Lpin^KG00562/+, partially rescues the lethality of hemizygous Torsin^KO78 larvae.

(Grillet et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Torsin^KO78 is rescued by Scer\GAL4^Cg.PA/Torsin^{UAS.mEGFP(L221K)}

(Jacquemyn et al., 2021)

Torsin^KO78 is rescued by Torsin^+t1.9

(Wakabayashi-Ito et al., 2011)